Turner Syndrome
Marie Smith, my aunt, was diagnosed with Turner’s Syndrome in her adolescence. This was very hard for her family but especially her parents. Turner’s Syndrome affects 1 out of every 2500 girls in the United States. Her parents were very emotional when they found out she had Turner’s disease. Doctors can tell if a child has the syndrome because their 23rd chromosome is different in their karyotype. Turner’s is a chromosal mutation. Children can’t get it from being passed on because it happens when 2 X chromosomes are missing or incomplete. My aunt Marie’s X chromosomes were missing. The doctor’s diagnosed her because she had heart defects at birth and kidney problems a few years later. She also had a webbed neck, broad chest, and swelling in her hands and feet. She noticed that she looked different from the other kids in her grade and she felt excluded. She went to Emory Reproductive Center, which was a treatment center for Turner’s Syndrome. Marie was treated with a growth hormone to help her reach a normal height as a teenager. If she didn’t take the growth hormone, Marie could have only grown to the average height of women not treated who have Turner’s syndrome, which is 4 feet and 8 inches. My aunt also had to take various medications and have surgeries. Now, my aunt Marie still has kidney and heart problems, but she also developed high blood pressure, weight gain, and diabetes.